The eyeGENE Network was designed to gather and manage molecular diagnostic and phenotypic clinical data for use in ophthalmic disease research. Individuals have been recruited into eyeGENE from academic centers, private practices and the NEI. Referring eye health care providers are required to complete an online registration, obtain informed consent and assure that genetic counseling will be provided. Phenotypic information is entered via a secure web-based eyeGENE-specific database by referring eye health care providers. In consultation, DNA is sent to Network CLIA labs for molecular diagnostic testing on specific disorders, while the remainder is stored at the eyeGENE Repository. The Coordinating Center, based at NEI, manages the centralized repository for blood/DNA and the genotype/phenotype database. The Coordinating Center also manages the referral of clinical genetic testing for patients submitted from participating clinics to a Network CLIA-certified lab. CLIA labs provide molecular genetic diagnostic reports which are incorporated into the eyeGENE database, whereupon the Coordinating Center contacts the referring clinician and reports the test results. An external Steering Committee provides opinions regarding scientific, ethical, and management issues relating to eyeGENE. To date, over 475 individuals representing over 200 clinical organizations have registered with the Network.Currently, 12 CLIA associated laboratories provide testing for over 70 genes. Mutations in these genes correlate with over 30 different clinical ocular diagnoses. Diseases include: Albinism, Aniridia and other developmental eye anomalies, Axenfeld-Rieger Syndrome, Best Disease, Bietti's Crystalline Corneo-Retinal Dystrophy. Choroideremia, Chronic Progressive External Ophthalmoplegia (CPEO)/Kearns-Sayre Syndrome (KSS), Cone Rod Dystrophy, Congenital Cranial Dysinnervation Diseases (CCDD), Congenital Stationary Night Blindness, Corneal Dystrophy, Doyne Honeycomb Dystrophy, Familial Exudative Vitreal Retinopathy, Glaucoma, Hermansky-Pudlak Syndrome, Infantile Neuroaxonal Dystrophy (INAD), Juvenile X-linked Retinoschisis, Leber Hereditary Optic Neuropathy (LHON), Lowe Syndrome, Microphthalmia and Anophthalmia, Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS), Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF), Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP), Optic Atrophy Type 1, Pantothenate Kinase-associated Neuropathy (PKAN), Pattern Dystrophy, Retinitis Pigmentosa (RP) and other retinal degenerative diseases, Retinoblastoma, Sorsby Fundus Dystrophy, and Stargardt Disease. Almost 3,000 patient samples have been collected and samples and corresponding de-identified clinical information are now available to approved vision researchers. The eyeGENE Network serves as a model of broad-based community collaboration for other genetic conditions. The eyeGENE Network will continue to serve the vision community by promoting accessibility of genetic testing to patients with ocular diseases and by promoting clinical and basic research for a better understanding and treatment of ocular diseases.